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LOC122861311 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232579381-232579910 [ Homo sapiens (human) ]

Gene ID: 122861311, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122861311
Gene description
H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232579381-232579910
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as an active enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K27ac and H3K4me1 histone modifications. A subregion was also validated as a repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Repressive DNase unmatched - State 25:Art, potential CNV or repetitive artifacts). [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (231714671..231715200)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (232199241..232199770)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (232579429..232579723)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:232576909-232577409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:232579911-232580440 Neighboring gene Sharpr-MPRA regulatory region 12341 Neighboring gene microRNA 1244-1 Neighboring gene prothymosin alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17315 Neighboring gene phosphodiesterase 6D Neighboring gene Sharpr-MPRA regulatory region 13150 Neighboring gene RNA, U6 small nuclear 1342, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:232645182-232645405 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12447 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12448 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12449 Neighboring gene COP9 signalosome subunit 7B Neighboring gene ribosomal protein L28 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • Sharpr-MPRA regulatory region 810

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_077126.2 

    Range
    101..630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    231714671..231715200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    232199241..232199770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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